L12M (p.Leu12Met) variant of HLA-B (P01889)
L12M (p.Leu12Met) in HLA-B (P01889) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and structural context.
L12M (p.Leu12Met) variant details
- p.Leu12Met
- ExAC rs746200003
- gnomAD rs746200003
- Missense
- Variant Prioritization Score for Impact Estimate 0.309
- REVEL 0.11
- CADD 25.60
- PolyPhen-2 1.00
- SIFT 0.03
- Most common in the African/African-American population (allele frequency 0.00013)
- Structural context available